Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Porto, Portugal.
Institute for Research and Innovation in Health, University of Porto, Porto, Portugal.
Dermatology. 2022;238(3):507-516. doi: 10.1159/000518219. Epub 2021 Sep 21.
While BRAF mutations seem important for early melanomagenesis, mutations in the TERT promoter (TERTp) are related to metastasis. Yet, in conventional melanoma management, risk stratification does not depend on molecular biomarkers that can indicate the stage of progression, but rather on clinical, pathological, sentinel lymph node (SLN), and radiologic evaluation. The aim of this work was to evaluate the frequency and prognostic impact of TERTp mutations, comparing their predictive value to those of conventional procedures in melanoma management.
Mutational analysis of a series of 91 cases was performed. The correlations between TERTp and BRAF mutational status and clinicopathological features were assessed.
The mutation rate was 33% for TERTp and 30% for BRAF. There was 68% concordance between primary and metastatic samples for TERTp mutations and 92% for BRAF mutations. TERTp mutations are significantly associated with the presence of BRAF mutations, features of worse prognosis, and a reduced disease-free survival. Also, TERTp mutational status was similar to SLN biopsy as a predictive factor of cutaneous melanoma recurrence and metastasis.
The predictive value of TERTp mutations may be similar to that of SLN biopsy and its integration in the management algorithm of melanoma patients should be considered.
虽然 BRAF 突变似乎对黑色素瘤的早期发生很重要，但 TERT 启动子（TERTp）的突变与转移有关。然而，在常规黑色素瘤管理中，风险分层并不依赖于能够指示进展阶段的分子生物标志物，而是依赖于临床、病理、前哨淋巴结（SLN）和影像学评估。本研究的目的是评估 TERTp 突变的频率和预后影响，并将其预测价值与黑色素瘤管理中的常规程序进行比较。
对一系列 91 例病例进行了突变分析。评估了 TERTp 与 BRAF 突变状态和临床病理特征之间的相关性。
TERTp 的突变率为 33%，BRAF 的突变率为 30%。TERTp 突变的原发性和转移性样本之间的一致性为 68%，BRAF 突变的一致性为 92%。TERTp 突变与 BRAF 突变的存在、预后不良的特征以及疾病无进展生存率降低显著相关。此外，TERTp 突变状态与 SLN 活检一样，是预测皮肤黑色素瘤复发和转移的一个因素。
TERTp 突变的预测价值可能与 SLN 活检相似，应考虑将其纳入黑色素瘤患者的管理算法中。
